Polygenic scores
PGS Catalog
Most common diseases do not hinge on a single variant but on thousands, each with a tiny effect. A polygenic score sums these in a weighted way into one figure. Genome computes scores using published models from the PGS Catalog.
How a score is built
Effect sizes per variant come from a genome-wide association study. The score multiplies each variant's genotype by its weight and sums everything up. The PGS Catalog provides these weight lists in a standardised, citable form so a computation stays reproducible.
Caution in interpretation
A high score means elevated average risk in the reference population, not certainty. For populations underrepresented in the source studies, scores are often poorly calibrated. Genome treats PGS as a research quantity, not a clinical test.
What Genome measures. The weighted sum score of a trait across all covered markers, stating marker coverage and the PGS Catalog identifier used, with citation.
Related topics
Sources
- 1Lambert et al., 2021 The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation. Nature Genetics 53:420–425. doi.org/10.1038/s41588-021-00783-5
- 2Torkamani, Wineinger & Topol, 2018 The personal and clinical utility of polygenic risk scores. Nature Reviews Genetics 19:581–590. doi.org/10.1038/s41576-018-0018-x
- 3Choi, Mak & O'Reilly, 2020 Tutorial: a guide to performing polygenic risk score analyses. Nature Protocols 15:2759–2772. doi.org/10.1038/s41596-020-0353-1